Arthrogryposis, renal tubular dysfunction, cholestasis (ARC)-syndrome: Case report and review of the literature

The ARC-syndrome is a rare disease with the obligatory symptomes arthrogryposis, renal tubular dysfunction and cholestasis. Optional further symptomes like ichthyosis, diarrhea, central nervous system defects and recurrent infections have been reported. The ARC-syndrome was first reported by Lutz-Richner and Landolt in 1973. The pathophysiology is still unknown, an autosomal recessive inheritance is postulated. Patients rarely exceed an age of six month. We report a boy of consanguineous Turkish parents who suffered from congenital deformities of the lower extremities, a metabolic acidosis and failure to thrive. In the sequel he developed a renal Fanconi syndrome and cholestasis. Histology of liver and muscle biopsy specimen showed the typical findings of the disease with giant cell hepatitis and neurogenous muscle atrophy. His condition could be stabilized and he increased in weight by substituting fluid, electrolytes, buffer and parenteral nutrition. Total enteral nutrition of the 280 ml/kg/d he required failed even by nasogastric tube and percutaneous endoscopic gastrostomy. Additonal fluid substitution by central venous catheter remained necessary. At the age of 7 month he died.